POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers

POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers

Background and purpose: Approximately 5–10% of cutaneous melanoma occurs in individuals with a family history of the disease. While known high-penetrance genes, such as CDKN2A, explain some cases, a substantial proportion of hereditary melanoma remains genetically undefined. Recently, germline varia...

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Main Authors: Konstantinos Papadakis, Francesca Portelli, Karina Schultz, Hedvig Olsson Sterky, Ismini Vassilaki, Jan Lapins, Michael R. Sargen, Sofia Obolenski, David J. Adams, Muyi Yang, Veronica Höiom, Hildur Helgadottir
Format: Article
Language:English
Published: Medical Journals Sweden 2025-08-01
Series:Acta Oncologica
Subjects:
POT1
cutaneous melanoma
sarcoma
cancer
telomere
mutation
Online Access:https://medicaljournalssweden.se/actaoncologica/article/view/44048
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https://medicaljournalssweden.se/actaoncologica/article/view/44048

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